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    PRM2 protamine 2 [ Homo sapiens (human) ]

    Gene ID: 5620, updated on 9-Dec-2024

    Summary

    Official Symbol
    PRM2provided by HGNC
    Official Full Name
    protamine 2provided by HGNC
    Primary source
    HGNC:HGNC:9448
    See related
    Ensembl:ENSG00000122304 MIM:182890; AllianceGenome:HGNC:9448
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT94.2
    Summary
    Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]
    Expression
    Restricted expression toward testis (RPKM 2357.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PRM2 in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11275639..11276480, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11311859..11312700, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11369496..11370337, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371082 Neighboring gene uncharacterized LOC124900380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11379964-11380464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11380465-11380965 Neighboring gene protamine 3 Neighboring gene small nucleolar RNA U13 Neighboring gene protamine 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ27447

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadmium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromosome condensation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in nucleus organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sequestering of metal ion EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of nucleosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protamine-2
    Names
    cancer/testis antigen family 94, member 2
    sperm histone P2
    sperm protamine P2
    testicular secretory protein Li 40

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286356.2NP_001273285.1  protamine-2 isoform 2

      See identical proteins and their annotated locations for NP_001273285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at the last exon that causes a frameshift compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC009121
      Consensus CDS
      CCDS66944.1
      UniProtKB/Swiss-Prot
      P04554
      Related
      ENSP00000403681.2, ENST00000435245.2
    2. NM_001286357.2NP_001273286.1  protamine-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate donor and acceptor splice sites at the junction of exons 1 and 2 compared to variant 1. The resulting isoform (3) lacks an internal protein segment and has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC009121
    3. NM_001286358.2NP_001273287.1  protamine-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate acceptor splice site at the last exon that causes a frameshift compared to variant 1. The resulting isoform (4) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC009121
      UniProtKB/Swiss-Prot
      P04554
    4. NM_001286359.2NP_001273288.1  protamine-2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate donor splice site at the first exon compared to variant 1. The resulting isoform (5) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC009121
      UniProtKB/Swiss-Prot
      P04554
    5. NM_002762.4NP_002753.2  protamine-2 isoform 1

      See identical proteins and their annotated locations for NP_002753.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the predominant isoform (1).
      Source sequence(s)
      AC009121
      Consensus CDS
      CCDS42118.1
      UniProtKB/Swiss-Prot
      P04554, Q6ZMM0
      UniProtKB/TrEMBL
      Q1LZN1
      Related
      ENSP00000241808.5, ENST00000241808.9

    RNA

    1. NR_104428.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is alternatively spliced at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009121

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      11275639..11276480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      11311859..11312700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)